Mutagenetix > Incidental Mutation

Incidental Mutation 'R6208:Nxpe4'

503268

Institutional Source

Beutler Lab

Gene Symbol

Nxpe4

Ensembl Gene

ENSMUSG00000044229

Gene Name

neurexophilin and PC-esterase domain family, member 4

Synonyms

Fam55d, D930028F11Rik

MMRRC Submission

044342-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R6208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48073321-48311325 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48304678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 255 (Y255F)

Ref Sequence

ENSEMBL: ENSMUSP00000149644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093853] [ENSMUST00000215780] [ENSMUST00000216998]

AlphaFold

Q52KP5

Predicted Effect

probably benign
Transcript: ENSMUST00000093853
AA Change: Y255F

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091375
Gene: ENSMUSG00000044229
AA Change: Y255F

Domain	Start	End	E-Value	Type
transmembrane domain	9	26	N/A	INTRINSIC
Pfam:Neurexophilin	74	272	8.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215780
AA Change: Y255F

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000216998
AA Change: Y255F

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217002

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	T	3: 32,766,043 (GRCm39)	I18F	probably benign	Het
Apol11a	C	T	15: 77,401,241 (GRCm39)	R243C	probably damaging	Het
Asap3	A	G	4: 135,968,508 (GRCm39)	M687V	probably benign	Het
Axdnd1	C	T	1: 156,220,426 (GRCm39)		probably benign	Het
Baz2b	A	G	2: 59,755,150 (GRCm39)	F1026S	probably damaging	Het
Bsg	T	C	10: 79,544,672 (GRCm39)	L70P	probably damaging	Het
Col10a1	A	G	10: 34,270,582 (GRCm39)	N185D	possibly damaging	Het
Col6a2	T	A	10: 76,450,891 (GRCm39)	N50I	possibly damaging	Het
Cux2	G	A	5: 121,998,885 (GRCm39)	P1352S	possibly damaging	Het
Defa25	A	G	8: 21,575,197 (GRCm39)		probably null	Het
Emc1	G	T	4: 139,081,582 (GRCm39)	R70L	probably damaging	Het
Fat1	T	C	8: 45,480,650 (GRCm39)	F3028S	probably damaging	Het
Fhit	T	C	14: 9,573,435 (GRCm38)	E205G	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm20830	T	G	Y: 6,916,792 (GRCm39)	E109A	probably benign	Homo
Grm1	A	T	10: 10,595,690 (GRCm39)	F646Y	probably damaging	Het
Hp1bp3	A	G	4: 137,944,481 (GRCm39)		probably benign	Het
Lce1d	G	A	3: 92,593,312 (GRCm39)	P34S	unknown	Het
Lpar1	G	A	4: 58,504,630 (GRCm39)	Q13*	probably null	Het
Lrrc61	C	T	6: 48,545,839 (GRCm39)	R221*	probably null	Het
Map2	A	G	1: 66,470,749 (GRCm39)	N328D	probably damaging	Het
Mndal	T	A	1: 173,684,988 (GRCm39)	D527V	possibly damaging	Het
Mycbp2	T	G	14: 103,532,664 (GRCm39)	N430T	probably benign	Het
Myo1e	A	G	9: 70,283,887 (GRCm39)	Y861C	probably damaging	Het
Nav2	A	G	7: 49,213,851 (GRCm39)	T1622A	probably damaging	Het
Nom1	A	T	5: 29,654,617 (GRCm39)	H773L	possibly damaging	Het
Npc2	G	T	12: 84,803,919 (GRCm39)	P144Q	probably damaging	Het
Npnt	A	G	3: 132,655,774 (GRCm39)		probably benign	Het
Obscn	G	A	11: 58,958,474 (GRCm39)	A3769V	possibly damaging	Het
Optc	T	C	1: 133,832,737 (GRCm39)	D121G	probably damaging	Het
Pard6a	T	C	8: 106,428,866 (GRCm39)	F26L	probably damaging	Het
Pcdhga4	T	A	18: 37,819,762 (GRCm39)	I437N	probably damaging	Het
Phf12	G	T	11: 77,914,417 (GRCm39)	V71F	probably damaging	Het
Phf21b	T	A	15: 84,679,317 (GRCm39)	S282C	probably damaging	Het
Pou5f1	T	C	17: 35,821,357 (GRCm39)	F323S	possibly damaging	Het
Psmd5	A	T	2: 34,757,023 (GRCm39)	I67N	probably damaging	Het
Pyroxd1	A	G	6: 142,303,182 (GRCm39)	K273R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpusd1	A	T	17: 25,949,352 (GRCm39)	H174L	probably damaging	Het
Ryr2	T	C	13: 11,910,106 (GRCm39)	K94R	probably benign	Het
Scn2b	A	G	9: 45,029,328 (GRCm39)	R3G	probably benign	Het
Sf3b2	A	T	19: 5,325,126 (GRCm39)	M782K	possibly damaging	Het
Skint7	A	G	4: 111,842,073 (GRCm39)		probably null	Het
Slc43a1	A	G	2: 84,687,184 (GRCm39)	I319V	possibly damaging	Het
Snupn	T	A	9: 56,890,247 (GRCm39)	M356K	probably damaging	Het
Spata31d1a	C	A	13: 59,848,378 (GRCm39)	R1250M	probably damaging	Het
Sprr2h	T	C	3: 92,294,216 (GRCm39)	V21A	unknown	Het
Srpra	A	G	9: 35,127,291 (GRCm39)	T614A	possibly damaging	Het
Stk36	A	T	1: 74,650,591 (GRCm39)	Q327L	probably benign	Het
Syne3	A	G	12: 104,909,622 (GRCm39)	I738T	probably benign	Het
Tcea3	A	T	4: 135,975,360 (GRCm39)	M1L	probably damaging	Het
Tead2	G	T	7: 44,867,526 (GRCm39)	R85L	probably damaging	Het
Thap7	T	C	16: 17,346,300 (GRCm39)	N228D	possibly damaging	Het
Trip11	T	A	12: 101,865,154 (GRCm39)	E173V	probably damaging	Het
Ttc38	T	A	15: 85,725,698 (GRCm39)	M187K	possibly damaging	Het
Vmn1r193	T	A	13: 22,403,138 (GRCm39)	T285S	possibly damaging	Het
Vmn2r106	T	C	17: 20,488,591 (GRCm39)	T603A	probably damaging	Het
Vps39	A	T	2: 120,163,897 (GRCm39)	M355K	probably damaging	Het
Wnt5b	G	T	6: 119,423,473 (GRCm39)	L51I	probably damaging	Het
Xxylt1	A	G	16: 30,826,626 (GRCm39)	Y230H	probably benign	Het

Other mutations in Nxpe4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Nxpe4	APN	9	48,305,440 (GRCm39)	missense	possibly damaging	0.63
IGL01723:Nxpe4	APN	9	48,309,898 (GRCm39)	missense	probably benign	0.00
IGL03008:Nxpe4	APN	9	48,304,738 (GRCm39)	missense	probably benign	0.01
IGL03022:Nxpe4	APN	9	48,304,548 (GRCm39)	missense	probably damaging	0.99
IGL03271:Nxpe4	APN	9	48,304,345 (GRCm39)	missense	probably damaging	0.99
R0633:Nxpe4	UTSW	9	48,307,897 (GRCm39)	missense	probably benign
R1033:Nxpe4	UTSW	9	48,304,533 (GRCm39)	missense	probably damaging	1.00
R1186:Nxpe4	UTSW	9	48,304,692 (GRCm39)	missense	probably benign	0.23
R1296:Nxpe4	UTSW	9	48,307,793 (GRCm39)	missense	probably benign	0.00
R1596:Nxpe4	UTSW	9	48,307,855 (GRCm39)	missense	probably damaging	0.97
R1813:Nxpe4	UTSW	9	48,304,678 (GRCm39)	missense	possibly damaging	0.87
R2511:Nxpe4	UTSW	9	48,304,533 (GRCm39)	missense	probably damaging	1.00
R2902:Nxpe4	UTSW	9	48,305,446 (GRCm39)	missense	probably benign	0.00
R4229:Nxpe4	UTSW	9	48,304,122 (GRCm39)	missense	possibly damaging	0.80
R4230:Nxpe4	UTSW	9	48,304,122 (GRCm39)	missense	possibly damaging	0.80
R4231:Nxpe4	UTSW	9	48,310,137 (GRCm39)	missense	probably damaging	1.00
R4233:Nxpe4	UTSW	9	48,310,137 (GRCm39)	missense	probably damaging	1.00
R4236:Nxpe4	UTSW	9	48,310,137 (GRCm39)	missense	probably damaging	1.00
R4296:Nxpe4	UTSW	9	48,310,284 (GRCm39)	missense	probably damaging	0.98
R5016:Nxpe4	UTSW	9	48,304,185 (GRCm39)	missense	probably benign	0.12
R5644:Nxpe4	UTSW	9	48,304,050 (GRCm39)	missense	probably benign	0.01
R5797:Nxpe4	UTSW	9	48,307,838 (GRCm39)	missense	possibly damaging	0.86
R5979:Nxpe4	UTSW	9	48,307,862 (GRCm39)	missense	probably benign	0.02
R6170:Nxpe4	UTSW	9	48,304,104 (GRCm39)	missense	probably benign	0.12
R6431:Nxpe4	UTSW	9	48,304,145 (GRCm39)	missense	probably damaging	0.99
R7475:Nxpe4	UTSW	9	48,304,640 (GRCm39)	nonsense	probably null
R8093:Nxpe4	UTSW	9	48,307,852 (GRCm39)	missense	probably benign	0.03
R8103:Nxpe4	UTSW	9	48,304,020 (GRCm39)	missense	probably benign
R8185:Nxpe4	UTSW	9	48,304,509 (GRCm39)	missense	possibly damaging	0.89
R8768:Nxpe4	UTSW	9	48,304,050 (GRCm39)	missense	probably benign	0.01
R8774:Nxpe4	UTSW	9	48,304,692 (GRCm39)	missense	probably benign	0.23
R8774-TAIL:Nxpe4	UTSW	9	48,304,692 (GRCm39)	missense	probably benign	0.23
R8903:Nxpe4	UTSW	9	48,310,250 (GRCm39)	missense	probably damaging	0.99
R9064:Nxpe4	UTSW	9	48,309,964 (GRCm39)	missense	probably benign	0.43
R9327:Nxpe4	UTSW	9	48,309,984 (GRCm39)	missense	probably benign	0.05
R9682:Nxpe4	UTSW	9	48,304,248 (GRCm39)	missense	probably benign	0.16
X0062:Nxpe4	UTSW	9	48,310,325 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTCTCTGGAGATCAAGGAAAC -3'
(R):5'- ACTGTGAATGAGTTCCTTGCTC -3'

Sequencing Primer
(F):5'- CAGGGCTACGACAGAATCATCTTCTC -3'
(R):5'- GAGTTCCTTGCTCCCTTCTCATAAAG -3'

Posted On

2018-02-27